Varaico: Literature-Extracted Genetic Variants

Gene:AURKC
Variant:p.T145_I146Splc
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AURKC

NM_001015878.2:p.T145_I146Splc

Associated Papers

Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.

Li K et al.

Human Reproduction Update, 2025

Successful intracytoplasmic sperm injection in a macrozoospermia case with novel compound heterozygous aurora kinase C (AURKC) mutations.

Jiang L et al.

Archives of Gynecology and Obstetrics, 2024

Computational study of the potential impact of AURKC missense SNPs on AURKC-INCENP interaction and their correlation to macrozoospermia.

Redouane S et al.

Journal of Biomolecular Structure & Dynamics, 2023

Compound heterozygosity for novel AURKC mutations in an infertile man with macrozoospermia.

Bai S et al.

Andrologia, 2020

Mutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia.

Kobesiy MM et al.

Andrologia, 2020

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia.

Hua J et al.

Journal of Assisted Reproduction and Genetics, 2019

Genetics of male infertility.

Krausz C et al.

Nature Reviews. Urology, 2018

Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia.

Carmignac V et al.

Andrology, 2017

Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system.

Fellmeth JE et al.

Human Molecular Genetics, 2016

Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage.

Molinari E et al.

Reproductive Biomedicine Online, 2013

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.

Ben Khelifa M et al.

Human Reproduction (oxford, England), 2012

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.

Ben Khelifa M et al.

Molecular Human Reproduction, 2011

Teratozoospermia: spotlight on the main genetic actors in the human.

Coutton C et al.

Human Reproduction Update, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."